Background: Glutaric aciduria Type I is a rare autosomal recessive disorder caused by the deficiency of mitochondrial enzyme glutaryl-CoA dehydrogenase.
Objective and Methods: To report a 32 year old patient with glutaric aciduria type I. Clinical, biochemical and radiologic findings are described.
Results: A 32 year old, right handed lady presented with migraine headaches and a bipolar disorder. There was no apparent cognitive decline except that the husband reported that his wife had always been intellectually slow. Her mother’s sister suffered from dementia. Neurologic examination revealed a slight reduction in verbal fluency and motor sequencing with broken pursuit movements and bilateral pyramidal tract signs. Her investigations showed an abnormally high level of urinary glutaric acid 857 (normal < 4) and 3-hydroxyglutaric acid 44 (normal <1) mmol/mol creatinine and subsequently plasma glutaryl carnitine 1.2 µmol/L; (normal < 0.34 µmol/L) . MRI brain revealed confluent bilateral symmetric white matter signal abnormality on T2 and FLAIR images along with mild cerebral atrophy. Classic widening of Sylvian fissures and CSF space anterior to temporal lobes was seen. Despite late presentation striatal necrosis was not observed on diffusion weighted images. She was started on L- carnitine and is being followed up.
Conclusion: We would like to emphasise the importance of testing of organic acids to look for potentially treatable disorders, such as glutaric aciduria type I, as a cause of adult onset leukodystrophy. It is unknown whether therapy can prevent disease progression in this phenotype.